Canonical Allele Identifier: CA375199313

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132581151A>G (hg19) ; chr9:g.129818872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818872A>G , CM000671.2:g.129818872A>G	GRCh38
NC_000009.11:g.132581151A>G , CM000671.1:g.132581151A>G	GRCh37
NC_000009.10:g.131620972A>G	NCBI36
NG_008049.1:g.10291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.493T>C MANE Select	ENSP00000345719.4:p.Ser165Pro
ENST00000651202.1:c.589T>C	ENSP00000498222.1:p.Ser197Pro
ENST00000351698.4:c.493T>C	ENSP00000345719.4:p.Ser165Pro
ENST00000473604.2:n.603T>C
NM_000113.2:c.493T>C	NP_000104.1:p.Ser165Pro
XR_929731.1:n.653T>C
XR_929731.3:n.521T>C
NM_000113.3:c.493T>C MANE Select	NP_000104.1:p.Ser165Pro